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OMIA:002413-9940 : Deafness, OTOF-related in Ovis aries (sheep)

Categories: Hearing / vestibular / ear phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603681 (gene) , 601071 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OTOF otoferlin Ovis aries 3 NC_056056.1 (33709774..33619825) OTOF Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002413-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Crispo, M., Chenouard, V., Dos Santos-Neto, P., Tesson, L., Souza-Neves, M., Heslan, J.M., Cuadro, F., Anegón, I., Menchaca, A. :
Generation of a human deafness sheep model using the CRISPR/Cas system. Methods Mol Biol 2495:233-244, 2022. Pubmed reference: 35696036. DOI: 10.1007/978-1-0716-2301-5_12.
2020 Menchaca, A., Dos Santos-Neto, P.C., Souza-Neves, M., Cuadro, F., Mulet, A.P., Tesson, L., Chenouard, V., Guiffès, A., Heslan, J.M., Gantier, M., Anegón, I., Crispo, M. :
Otoferlin gene editing in sheep via CRISPR-assisted ssODN-mediated homology directed repair. Sci Rep 10:5995, 2020. Pubmed reference: 32265471. DOI: 10.1038/s41598-020-62879-y.

Edit History


  • Created by Imke Tammen2 on 30 Aug 2021
  • Changed by Imke Tammen2 on 18 Dec 2023